tbuckley/cabot-search huggingface dataset:
P18 A novel presentation of glycogenic acanthosis of the lip
Authors: Niall Cosgrave, Julianne Clowry, Laoise Coady, Mairin McMenamin, Benvon Moran
Journal: British Journal of Dermatology (2023)

Abstract Glycogenic acanthosis (GAc) is a benign epithelial disorder, commonly observed in the oesophagus during endoscopy as multiple raised nodules affecting otherwise normal oesophageal mucosae (Tsai SJ, Lin CC, Chang CW et al. Benign esophageal lesions: endoscopic and pathologic features. World J Gastroenterol 2015; 21:1091). Despite its indolent disease course, oesophageal GAc is a minor diagnostic criterion for Cowden syndrome (CS). Glycogenic acanthosis affecting tissues other than the oesophagus is extremely rare. There have only been six cases of oral GAc reported to date, with no confirmed reports of GAc affecting the lip. We present the case of a 65-year-old White man with a 6-month history of asymptomatic white papules on the left lower lip. He was a lifelong nonsmoker. His past medical history was notable for colorectal cancer, which was in remission posthemicolectomy. He had also undergone ablative treatment for nasal polyps. He had no history of gastro-oesophageal reflux disease, or of thyroid disease, benign or malignant. Prominent facial actinic damage was present, and a biopsy was performed to rule out dysplasia. Histology demonstrated thickened hyperplastic epidermis and cytoplasmic clearing in the superficial epidermis. Keratinocytes with enlarged cytoplasm were positive on periodic acid–Schiff staining, supporting a diagnosis of GAc. On review, 3 months later, a single residual white papule was observed on the left lower lip. There were no other cutaneous features suggestive of CS. CS is caused by mutations in PTEN and is part of a spectrum of disorders known as PTEN hamartoma tumour syndrome (PHTS). It is associated with increased risk of solid-organ malignancies. Of the prior six reported cases of oral GAc, only one (Nishizawa A, Satoh T, Watanabe R et al. Cowden syndrome: a novel mutation and overlooked glycogenic acanthosis in gingiva. Br J Dermatol 2009; 160:1116–18) had a confirmed association with CS. Our patient remains under endoscopic surveillance but does not currently meet the criteria for either diagnosis or further genetic evaluation of CS. Oral glycogenic acanthosis may be an under-recognized entity due to its subtle clinical presentation. Biopsy and full-skin examination are warranted in suspected cases, to identify any association with an underlying genodermatosis.
P28 Impact of the COVID-19 pandemic on cutaneous squamous cell carcinoma pathology reports in England and its nine regions: 1127 fewer cSCCs reported in 2020 compared with that in 2019
Authors: James Wall, Zoe Venables, Nick Levell
Journal: British Journal of Dermatology (2023)

Abstract During the COVID-19 pandemic, three waves of infection in 2020–2021 in England were associated with reductions in the reported numbers of many cancers. Possible factors included patient anxiety in attending hospitals, shielding, staff redeployment, and staff and patient sickness. This study analysed national pathology record data to identify whether cutaneous squamous cell carcinoma (cSCC) counts decreased during the COVID-19 pandemic. The Cancerstats2 keratinocyte cancer tool data between January 2016 and December 2021 were assessed. Percentage differences were compared between cSCC reports in England and its regions during each of the three COVID-19 waves and similar time periods in 2019. Crude incidence rates per 100 000 person-years (PY) and incidence rate ratios (IRR) with 95% confidence intervals (CIs) were calculated. From 2016 to 2019, annual cSCC reports totalled 42 180, 44 460, 46 439 and 48 701, respectively (+4.9% mean yearly increase). cSCC reports decreased by 1127 to 47 574 in 2020 (–2.3%), an important finding given the previously increasing trend. cSCC reports increased to 48 798 in 2021 (0% change from 2019). The greatest reductions were in North East England (n = 230; −9.1%) and the East Midlands (n = 299; −9.0%). The crude cSCC incidence rate per 100 000 PY reduced from 86.5 (95% CI 85.7–87.3) in 2019 to 84.1 (95% CI 83.4–84.9) in 2020 (IRR 0.98, 95% CI 0.97–0.99; P &amp;lt; 0.05) and 86.3 (95% CI 85.5–87.1) in 2021 (IRR 1.00, 95% CI 0.99–1.01). During the first wave (April 2020), 42.3% fewer cSCCs were reported in England. In the second (December 2020) and third waves (January 2021), cSCC reports increased (3.6% and 2.5%, respectively). The regional variation in cSCC reports compared with 2019 ranged between −51.4% and −35.5% (first wave), between −6.2% and +35.2% (second wave), and between −23.4% and +26.5% (third wave). This is the largest study to assess the COVID-19 pandemic impact on cSCC counts. The decrease in cSCC reports was less than that reported for melanoma. cSCCs often present symptomatically, possibly making patients more likely to seek medical attention than with melanomas. Study limitations include that the cancerstats2 tool was developed for quality analysis purposes and not for epidemiology. It provides more up-to-date pathology counts but does not undergo the same quality control processes as gold standard, formally registered data. These data are used as a proxy, indicative for diagnoses, but should be interpreted with caution. Although mortality rates for cSCC are low, delayed diagnosis may lead to poorer outcomes. The long-term consequences of delayed cSCC diagnosis during the COVID-19 pandemic will become clearer with time.
DP06 (P10) Blastic plasmacytoid dendritic cell neoplasm: two representative cases
Authors: Neha Taneja
Journal: British Journal of Dermatology (2023)

Abstract Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a malignant proliferation of plasmacytoid dendritic cells, representing &amp;lt;1% of primary cutaneous lymphomas. It most commonly presents in the skin and has a poor prognosis with median survival of 1 year. The fifth World Health Organization classification of haematolymphoid tumours encompasses two entities in plasmacytoid dendritic cell neoplasms: BPDCN and ‘mature plasmacytoid dendritic cell neoplasm associated with myeloid neoplasm’. We present two cases, one representing each subset. Our first case was a 58-year-old man who presented with an asymptomatic, rapidly progressive, skin coloured-to-ery­thematous and hyperpigmented firm papules, nodules and plaques over the trunk, upper limbs and face of 2.5 months’ duration. This was associated with loss of appetite, loss of weight and leucopenia (2180 cells μL–1). Skin biopsy revealed a grenz zone with pandermal infiltration by large cells with high nuclear:cytoplasmic ratio, vesicular nuclei and prominent nucleoli and frequent mitotic figures. Immunohistochemistry (IHC) was leucocyte common antigen (LCA)+ but CD3–, CD20–, myeloperoxidase (MPO)– and CD117–. Bone marrow biopsy showed a similar infiltrate of cells, but the peripheral blood smear and flow cytometry was within normal limits. Further IHC was CD4+, CD56+, CD43+ and CD123+, establishing a diagnosis of BPDCN, and the patient was initiated on the Hoelzer protocol with 80% clearance of lesions after two cycles of chemotherapy. The second case was a 60-year-old woman who presented with asymptomatic firm skin-coloured nodules on her scalp, trunk, extremities and oral mucosa, associated with a low-grade fever, fatigability, weight loss, generalized lymphadenopathy and hepatosplenomegaly of 4 months’ duration. Histopathology showed similar features to the first case, with IHC being negative for CD3, CD20, CD138 and MPO. However, cells were LCA+, CD4+, CD56+ and CD43+. Bone marrow showed 77% acute leukaemia blasts with a MPO+ result, establishing diagnosis of acute myeloid leukaemia, suggestive of a mature plasmacytoid dendritic cell neoplasm associated with myeloid neoplasm. To conclude, BPDCN is an aggressive neoplasm that commonly presents in the skin and should be suspected by dermatologists when screening IHC for lymphoid and myeloid cell lines is negative in a suspected case of leukaemia cutis. A panel of CD4/CD56/CD43/CD123 may be used to establish the diagnosis.
BI31 Hereditary haemochromatosis: a risk factor for nonmelanoma skin cancer?
Authors: Rory Barry, Gregg Murray, Karl Hazel, John Ryan, Richard Watchorn
Journal: British Journal of Dermatology (2023)

Abstract Hereditary haemochromatosis (HH) is an autosomal recessive disease resulting in excessive levels of iron. In a recent study, in a US population of 448 patients diagnosed with HH, a positive association between HH and nonmelanoma skin cancers (NMSCs) was observed (Pan CX, Yang K, Lau CB et al. Non-melanoma skin cancer in patients with hereditary hemochromatosis: a case–control study. J Am Acad Dermatol 2023; 88:692–4). The authors also reported that, among those who required more frequent venesection, the risk of basal cell carcinoma (BCC) was particularly elevated. In terms of the possible pathomechanism, the authors noted that oxidative stress represents a key component in the pathogenesis of both HH and BCC. Ireland has the highest prevalence of HH in the world, with research suggesting approximately 1 in 83 people is predisposed. For this reason, a study was undertaken to determine if a similar association could be observed in an Irish population. A single-centre retrospective cross-sectional analysis was undertaken on a database of patients with haemochromatosis attending the venesection department of a tertiary referral centre over 25 years (1997–2022). All histologically diagnosed NMSCs within this patient group were then recorded. Ethical approval was granted by the local hospital ethics committee. There were a total 1480 patients in the database, 65% Male (n = 956). Five were excluded due to insufficient data. Thus, 1475 patients were analysed, 64% male (n = 949). The mean current age was 60 years (range: 19–100). Only 52/1475 patients (3.5%) had a histologically diagnosed NMSC, 52% male (n = 27). HH genetic mutation: C282Y homozygous (n = 29); H63D homozygous (n = 5); C282Y/H63D compound heterozygous (n = 11); and data not recorded (n = 7). Mean ferritin at HH diagnosis 575 (range: 0–8413). Forty-three patients were diagnosed with a BCC, 58% male (n = 25), with a total of 94 BCCs. Mean age was 67 years at first NMSC diagnosis. Histological classification: nodular (n = 48); superficial (n = 19); unclassified (n = 18); infiltrative (n = 5); micronodular (n = 3); and basosquamous (n = 1). Eleven patients were diagnosed with a squamous cell carcinoma (SCC), with a total of 21 SCCs. This study had limitations. It was a single-centre, retrospective study analysing only histologically confirmed NMSCs. It is acknowledged that a small proportion of NMSCs may be diagnosed clinically, specifically superficial BCCs without histological confirmation. Only records with histology available in our institution were recorded, and it is possible that NMSCs were excised in other institutions, potentially leading to an under-representation of NMSC incidence. The proportion of patients diagnosed with NMSCs in this cohort was relatively low, in contrast to the findings reported by Pan et al. This study indicates that HH is unlikely to represent an independent risk factor.
CPC08 Cutaneous squamous cell carcinoma and <i>MYH9</i>-associated elastin aggregation (MALTA) syndrome
Authors: William Fostier, Akhtar Husain, Neil Rajan
Journal: British Journal of Dermatology (2023)

Abstract MYH9-associated elastin aggregation (MALTA) syndrome is a rare, inherited, irregular elastin aggregation and sweat duct proliferation syndrome caused by pathogenic variants in MYH9. MALTA syndrome was proposed in 2019, unifying Nicolau Balus and Rombo syndromes as phenotypes arising from pathogenic variants in the same gene, but it has not been associated with cutaneous squamous cell carcinoma (cSCC) [Fewings E, Ziemer M, Hörtnagel K et al. Malta (MYH9 associated elastin aggregation) syndrome: germline variants in MYH9 cause rare sweat duct proliferations and irregular elastin aggregations. J Invest Dermatol 2019; 139:2238–41]. Here, we report the clinical features of a family with a novel MYH9 c.1952A&amp;gt;C p.(Lys651Thr) pathogenic variant, providing evidence that cSCC may be an associated feature of MALTA syndrome. A 57-year-old woman presented with a longstanding skin lesion overlying her left infraorbital ridge, which had been present for 13 years. Lesion biopsy revealed a highly infiltrative tumour within the dermis that was composed of keratocysts with small islands of basaloid cells; immunostaining was positive for CK5/6, CK7, CK19, p63 and BerEP4. These histological features were consistent with a microcystic adnexal carcinoma (MAC)-like ductal proliferation, recognized in MALTA. In addition, she had previously developed one cSCC on her left shoulder and two basal cell carcinomas and had cutaneous milia. Her sister had a history of MAC-like ductal proliferation and cSCC, and her brother had two keratoacanthoma-like cSCCs. The copresentation of MAC-like ductal proliferations and early-onset cSCC in this family prompted targeted genetic testing of MYH9. This identified a heterozygous pathogenic variant in a highly conserved region of MYH9 [c.1952A&amp;gt;C p.(Lys651Thr)] that segregated with the phenotype in all three affected members. MYH9 has previously been identified as an important gene in the pathogenesis of cSCC in a genetic screen in transgenic mice, and our family adds novel clinical data, underscoring its importance in cSCC development (Schramek D, Sendoel A, Segal JP et al. Direct in vivo RNAi screen unveils myosin IIa as a tumor suppressor of squamous cell carcinomas. Science 2014; 343:309–13). Based on the recurrent presentation of early-onset cSCC in three members of this family, we propose the inclusion of cSCC in MALTA syndrome. This has implications for skin cancer surveillance of MYH9 pathogenic variant carriers, and the need to consider MALTA syndrome in patients presenting with multiple early-onset cSCC.
P14 Bullous sweet syndrome as a presentation of chronic myelogenous leukaemia
Authors: Zarnain Shah Syed, Syeda Wajiha Abbas, Usman Shaikh
Journal: British Journal of Dermatology (2023)

Abstract A variety of cutaneous lesions are frequently encountered in clinical practice that could be secondary to allergic reactions, infections or an underlying systemic illness, including malignancy. Some of the most commonly observed paraneoplastic dermatological manifestations include acanthosis nigricans, necrolytic migratory erythema, acrodermatitis paraneoplastica, exfoliative erythroderma, paraneoplastic pemphigus, pyoderma gangrenosum and Sweet syndrome. Sweet syndrome is a neutrophilic dermatosis characterized by a particular constellation of clinical symptoms, signs and histopathological findings: pyrexia; peripheral leucocytosis; and painful erythematous skin lesions (papules, plaques and nodules) that typically reveal a dense dermal neutrophilic infiltrate and dramatic recovery of both symptoms and physical findings following treatment with systemic corticosteroids. Sweet syndrome is frequently related to malignancies and chronic inflammatory disorders, and it can also be caused by drugs. It can also be triggered by past infections or during pregnancy. We present a case of bullous variant of Sweet syndrome associated with chronic myelogenous leukaemia (CML) where the patient presented with crusted bullae and tender erythematous crusted plaques on all four limbs and face. Investigations revealed leucocytosis with peripherally circulating blasts, myelocytes and metamyelocytes. Skin biopsy revealed Sweet syndrome and bone marrow biopsy confirmed evidence of CML in the accelerated phase. The skin lesions, which had previously been resistant to therapy, surprisingly disappeared within 3 days of initiating systemic corticosteroids. In this case, the skin lesions were a crucial clinical finding in detecting and treating the underlying CML. Because of the early intervention, our patient had a good outcome.
BT26 Safe use of mobile photographic devices in dermatology: a multicentre quality-improvement project
Authors: Laksha Bala, Isha Narang
Journal: British Journal of Dermatology (2023)

Abstract Mobile devices are increasingly being used in dermatology to take clinical images, particularly in settings where medical photography services are not readily available. Healthcare professionals are expected to use mobile technology safely to improve patient care. Published UK guidance on the use of mobile photographic devices in dermatology details standards in three key areas: gaining patients’ informed consent, safe use of mobile devices to capture patient images, and safe transfer and storage of these images. A quality-improvement project was conducted across three UK centres. Baseline data were collected over a 2-week period in January 2023 using an anonymous staff survey and analysis of 50 outpatient encounters where mobile devices were used to take clinical images. Our survey achieved a response rate of 77% (n = 20) from consultants (60%), specialty doctors/fellows (30%) and nurses/advanced care practitioners (10%). All respondents sought patient consent prior to taking images on their personal devices, with only 10% using written consent forms (remainder using verbal consent). Thirty-five per cent reported always documenting consent in patient notes and only 20% discussed the risks and benefits of using mobile devices to take patient images. Eighty-five per cent used devices with strong passcodes (six or more characters), but only 50% confirmed that data encryption was enabled on the device. Thirty-five per cent disabled cloud-based back-up systems, 55% disabled Bluetooth and only 5% switched off global positioning system information before taking patient images. For image transfer, 80% used NHS.net email and 20% used a secure clinical image transfer application. Seventy per cent confirmed using a secure network server for image storage and that they always removed patient images from their device after transfer. Analysis of 50 patient encounters revealed that verbal consent was only documented in 8% of cases and a discussion around the risks and benefits of using mobile devices was not documented in any case. National guidance states that it is the healthcare professional’s responsibility to give patients clear information on the risks and benefits of using mobile devices to capture and transfer clinical images for storage, without which there is no informed consent. Our findings highlight a lack of awareness and adaptation of practice to these standards. We will ascertain reasons for this and implement interventions to meet guidance, including an educational meeting and introduction of a standardized written consent form to ensure patient safety and appropriate informed consent. We will present our findings on the impact of these interventions following subsequent rounds of data collection.
004 Does methotrexate affect treatment persistence or effectiveness of adalimumab for psoriasis? A trial emulation cohort study
Authors: Zenas Yiu, Catherine Smith, Philip Laws, Philip Hampton, Christopher Griffiths, Richard Warren
Journal: British Journal of Dermatology (2023)

Abstract It is unclear whether concomitant methotrexate enhances the effectiveness and/or persistence of adalimumab in treating psoriasis. The OPTIMAP study (Optimizing Adalimumab Treatment in Psoriasis with Concomitant Methotrexate), a randomized controlled trial testing adalimumab against adalimumab + methotrexate, could not adequately answer this question due to under-recruitment. The aim of the current study is to replicate key aspects of the OPTIMAP trial design in a cohort study to provide a more precise estimate for the effect of concomitant methotrexate on adalimumab persistence and effectiveness. We conducted a cohort study using the British Association of Dermatologists Biologics and Immunomodulators Register, a national pharmacovigilance registry for people on systemic treatments for psoriasis, between 2007 and 2021. We included participants ≥ 18 years old who had at least one record of a Psoriasis Area and Severity Index (PASI) ≥ 8 and were naïve to adalimumab. We used the same exclusion criteria as in the OPTIMAP study. Participants received either adalimumab (Humira®) in the comparison arm or adalimumab (Humira) in addition to methotrexate and folic acid, with dosage as determined by the clinician in the intervention arm from initiation at cohort entry, and were censored if they deviated from the treatment strategy. The primary outcome is in the difference in the survival function for adalimumab at 1 year. The secondary outcome was the difference in the proportion of patients achieving a 75% reduction in PASI (PASI 75) at 1 year. We used inverse probability treatment weighting to correct for known differences in participant characteristics precomparison. Missing outcomes were accounted for using inverse probability of censoring weighting. We fitted a flexible parametric survival model and a generalized linear model with an identity link for the primary and secondary outcomes, respectively. There were 219 and 1376 participants in the intervention and comparison arms, respectively. Drug survival for the monotherapy arm at 1 year was 77.5% [95% confidence interval (CI) 75.3–79.8], and for the intervention arm, it was 75.3% (95% CI 66.9–84.7), with a difference of −2.3% (95% CI −11.4 to 6.9). The risk difference for PASI 75 at 1 year was −10.7% (95% CI −29.3 to 8.0), with a PASI 75 rate of 43.5% for the intervention arm (95% CI 25.4–61.9) and 54.2% for the comparison arm (95% CI 49.6–58.7). We did not find any significant difference for the persistence and effectiveness of adalimumab in people with psoriasis on methotrexate vs. those who were not on methotrexate in this study. This result is in keeping with the reported first-year outcomes of OPTIMAP. Clinicians and patients should consider alternative strategies to improve treatment outcomes in people with severe psoriasis.